rs173356864
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs173356864(C;C) |
| Make rs173356864(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 1003628 |
| Gene | IDUA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs173356864 |
| dbSNP (classic) | rs173356864 |
| ClinGen | rs173356864 |
| ebi | rs173356864 |
| HLI | rs173356864 |
| Exac | rs173356864 |
| Gnomad | rs173356864 |
| Varsome | rs173356864 |
| LitVar | rs173356864 |
| Map | rs173356864 |
| PheGenI | rs173356864 |
| Biobank | rs173356864 |
| 1000 genomes | rs173356864 |
| hgdp | rs173356864 |
| ensembl | rs173356864 |
| geneview | rs173356864 |
| scholar | rs173356864 |
| rs173356864 | |
| pharmgkb | rs173356864 |
| gwascentral | rs173356864 |
| openSNP | rs173356864 |
| 23andMe | rs173356864 |
| SNPshot | rs173356864 |
| SNPdbe | rs173356864 |
| MSV3d | rs173356864 |
| GWAS Ctlg | rs173356864 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs173356864(C;C) |
| Alt | rs173356864(C;C) |
| Reference | Rs173356864(G;G) |
| Significance | Pathogenic |
| Disease | Hurler syndrome |
| Variation | info |
| Gene | IDUA |
| CLNDBN | Hurler syndrome |
| Reversed | 0 |
| HGVS | NC_000004.11:g.997416G>C |
| CLNSRC | |
| CLNACC | |
[PMID 21831683] A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.
